Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OP... - PubMed - NCBI

Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OP... - PubMed - NCBI

Neuroophthalmology. 2017 Aug 18;42(2):73-82. doi: 10.1080/01658107.2017.1344252. eCollection 2018 Apr.

Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON.

Galvez-Ruiz A1, Galindo-Ferreiro A1, Schatz P1,2.

Author information

Abstract

In this study, the authors present a sample of 71 patients with hereditary optic neuropathy and negative genetic test results for OPA1/OPA3/LHON. All of these patients later underwent genetic testing to rule out WFS. As a result, 53 patients (74.7%) were negative and 18 patients (25.3%) were positive for some type of mutation or variation in the WFS gene. The authors believe that this study is interesting because it shows that a sizeable percentage (25.3%) of patients with hereditary optic 25 neuropathy and negative genetic test results for OPA1/OPA3/LHON had WFS mutations or variants.

KEYWORDS:

Central diabetes insipidus; Wolfram syndrome; diabetes mellitus; hereditary optic neuropathies; neurosensory deafness; optic atrophy

PMID:

 

29563951

 

PMCID:

 

PMC5858862

 [Available on 2018-08-18]

 

DOI:

 

10.1080/01658107.2017.1344252